Williams syndrome (WS) is a relatively rare microdeletion disorder that occurs in as many as
1: 7,500 individuals. WS arises due to the mispairing of low-copy DNA repetitive elements at …

Although Mendelian genetic disorders are individually rare, they are collectively more
common and contribute disproportionately to pediatric morbidity and mortality. Remarkable …

Background Delays in the diagnosis of genetic syndromes are common, particularly in low
and middle-income countries with limited access to genetic screening services. We …

Immunogenomics studies have been largely limited to individuals of European ancestry,
restricting the ability to identify variation in human adaptive immune responses across …

Thanks to a better knowledge of the genetic causes of many diseases and an improvement
in genetic testing techniques, genetics has gained an important role in the multidisciplinary …

Background Pesticide exposure during susceptible windows and at certain doses are linked
to numerous birth defects. Early experimental evidence suggests an association between …

Purpose The interpretation of genetic variants after genome-wide analysis is complex in
heterogeneous disorders such as intellectual disability (ID). We investigate whether …

The core difficulties associated with Williams syndrome have a cascading effect on many
areas of development over time. However, specialist provision is rare and intervention trials …

Background Williams syndrome (WS) is a multisystem neurodevelopmental disorder caused
by microdeletions in 7q11. 23. This study aims to characterize the clinical phenotypes of …

Background: Williams-Beuren syndrome (WBS) is a rare genetic syndrome with a
characteristic “elfin” facial gestalt. The “elfin” facial characteristics include a broad forehead …